rs769452

This is a variant in the APOE gene that changes a leucine to an proline.

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GWAS Catalog Trait Associations (9)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

apolipoprotein E measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.58
p 2.0e-18
N 47,745
Large GWAS
European

low density lipoprotein cholesterol measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.23
p 7.0e-18
N 394,642
Large GWAS
European

total cholesterol measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.19
p 8.0e-14
N 394,642
Large GWAS
European

Alzheimer disease, family history of Alzheimer’s disease

Jansen IE et al. “Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.” Nature Genetics 51(3):404-413 (2019)
Allele C
OR 5.59
p 2.0e-8
N 455,258
Meta-analysisLarge GWAS
European
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ClinVar annotation

Pathogenic★☆☆☆
7 submitters13 publications

APOE4(-)-FREIBURG; Alzheimer disease 4 (AD4); Cardiovascular phenotype; Familial hypercholesterolemia

View on ClinVar →

About APOE

The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]

View all APOE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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